M O Woods
Affiliation: Memorial University of Newfoundland
- Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other lociP L Beales
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Am J Hum Genet 68:606-16. 2001..Our data also suggest that BBS6 is a minor contributor to the syndrome and that some BBS6 alleles may act in conjunction with mutations at other BBS loci to cause or modify the BBS phenotype...
- Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: evidence for a fifth locusM O Woods
Faculty of Medicine, Memorial University of Newfoundland, St John s, Newfoundland, A1B 3X9, Canada
Genomics 55:2-9. 1999..Six families remain undetermined because of poor pedigree structure or inconclusive haplotype analyses. Six families were excluded from all four known BBS loci, indicating that there is at least a fifth BBS locus (BBS5)...
- Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotypeT L Young
Faculty of Medicine, Memorial University of Newfoundland, St John s, Canada
Am J Med Genet 78:461-7. 1998..However, formal IQ testing shows that these patients are of average intelligence. Haplotype analysis reduces the BBS3 critical region to a 6-cM interval between D3S1595-D3S1753...
- A founder effect in the newfoundland population reduces the Bardet-Biedl syndrome I (BBS1) interval to 1 cMT L Young
Faculty of Medicine, Memorial University of Newfoundland, St John s, Newfoundland A1B 3V9, Canada
Am J Hum Genet 65:1680-7. 1999..The LD data suggest that the BBS1 gene lies in a 1-Mb, sequence-ready region on chromosome 11q13, which should enable its identification...
- Impact of colonoscopic screening in male and female Lynch syndrome carriers with an MSH2 mutationS Stuckless
Department of Clinical Epidemiology Department of Genetics, Faculty of Medicine, Memorial University of Newfoundland, St John s, Newfoundland, Canada
Clin Genet 82:439-45. 2012..CRC development may be further reduced by decreasing the screening interval to 1 year and improving quality of colonoscopy...
- Impact of gynecological screening in Lynch syndrome carriers with an MSH2 mutationS Stuckless
Clinical Epidemiology Unit, Faculty of Medicine, Memorial University of Newfoundland, St John s, Newfoundland, Canada
Clin Genet 83:359-64. 2013....
- The genetic basis of colorectal cancer in a population-based incident cohort with a high rate of familial diseaseM O Woods
Discipline of Genetics, Health Sciences Centre, St John s, Newfoundland, Canada
Gut 59:1369-77. 2010....
- A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31T L Young
Am J Hum Genet 64:900-4. 1999
- Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndromeN Katsanis
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
Nat Genet 26:67-70. 2000..Our data suggest that a complete loss of function of the MKKS product, and thus an inability to fold a range of target proteins, is responsible for the clinical manifestations of BBS...